Zobrazeno 1 - 10
of 126
pro vyhledávání: '"Disease variants"'
Autor:
Nikita Shah, Ameya S. Kasture, Florian P. Fischer, Harald H. Sitte, Thomas Hummel, Sonja Sucic
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
As the first member of the solute carrier 6 (SLC6) protein family, the γ-aminobutyric acid (GABA) transporter 1 (GAT1, SLC6A1), plays a pivotal role in the uptake of GABA from the synaptic cleft into neurons and astrocytes. This process facilitates
Externí odkaz:
https://doaj.org/article/32a4d9eccf1a45ecadbc7b915b884790
Autor:
Althagafi, Azza Th.
Whole-exome and genome sequencing are widely used to diagnose individual patients. However, despite its success, this approach leaves many patients undiagnosed. This could be due to the need to discover more disease genes and variants or because dise
Externí odkaz:
http://hdl.handle.net/10754/693761
Autor:
Wardah S. Alharbi, Mamoon Rashid
Publikováno v:
Human Genomics, Vol 16, Iss 1, Pp 1-20 (2022)
Abstract Genomics is advancing towards data-driven science. Through the advent of high-throughput data generating technologies in human genomics, we are overwhelmed with the heap of genomic data. To extract knowledge and pattern out of this genomic d
Externí odkaz:
https://doaj.org/article/a02989d1d801439ea249616ab04da1e9
Autor:
Ameya S. Kasture, Florian P. Fischer, Lisa Kunert, Melanie L. Burger, Alexander C. Burgstaller, Ali El-Kasaby, Thomas Hummel, Sonja Sucic
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2023)
Mutations in the human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) can instigate myoclonic-atonic and other generalized epilepsies in the afflicted individuals. We systematically examined fifteen hGAT-1 disease variants, all of which dramatica
Externí odkaz:
https://doaj.org/article/4ffecd21f91c4448a6d11fb06eb3c27c
Publikováno v:
Frontiers in Synaptic Neuroscience, Vol 14 (2023)
The GRIN2B-related neurodevelopmental disorder is a rare disease caused by mutations in the GRIN2B gene, which encodes the GluN2B subunit of NMDA receptors. Most individuals with GRIN2B-related neurodevelopmental disorder present with intellectual di
Externí odkaz:
https://doaj.org/article/a2e39ed0c7724de9a6e63e84c5db66b2
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Autor:
Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis i
Externí odkaz:
https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f
Autor:
Jayashree Kumar, Lela Lackey, Justin M Waldern, Abhishek Dey, Anthony M Mustoe, Kevin M Weeks, David H Mathews, Alain Laederach
Publikováno v:
eLife, Vol 11 (2022)
Splicing is highly regulated and is modulated by numerous factors. Quantitative predictions for how a mutation will affect precursor mRNA (pre-mRNA) structure and downstream function are particularly challenging. Here, we use a novel chemical probing
Externí odkaz:
https://doaj.org/article/7e9b5b2f330645718e814d97ac9b25a0
Autor:
Anisah W. Ghoorah, Toto Chaplain, Rakotoarivony Rindra, Smita Goorah, Ganessen Chinien, Yasmina Jaufeerally-Fakim
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Precision medicine has brought new hopes for patients around the world with the applications of novel technologies for understanding genetics of complex diseases and their translation into clinical services. Such applications however require a founda
Externí odkaz:
https://doaj.org/article/1132a8a280194bd8bf50f081dbb2526e
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